Analysis of a child with Verheij syndrome due to variant of PUF60 gene.
10.3760/cma.j.cn511374-20221206-00844
- Author:
Hongying WANG
1
,
2
;
Mao SHENG
;
Wenna QIU
;
Lijun ZHOU
;
Wensi NIU
;
Yuhan SUN
;
Xuefeng SHEN
;
Xiaodong WANG
Author Information
1. Department of Clinical Laboratory, Children's Hospital of Wujiang District, Suzhou, Jiangsu 215234, China. shenxuefeng6000@dingtalk.com
2. wangxd@suda.edu.cn.
- Publication Type:Journal Article
- MeSH:
Child;
Child, Preschool;
Humans;
Male;
Cafe-au-Lait Spots;
Computational Biology;
Genetic Testing;
Genomics;
Intellectual Disability/genetics*;
Mutation
- From:
Chinese Journal of Medical Genetics
2023;40(12):1536-1540
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the clinical phenotype and genetic variant in a child with Verheij syndrome (VRJS).
METHODS:A child who had presented at the Soochow University Affiliated Children's Hospital and Wujiang District Children's Hospital in July 2022 for "elevated scapula since early childhood" was selected as the study subject. Peripheral blood samples of the child and his parents were collected and subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing and bioinformatic analysis.
RESULTS:The child had manifested elevated scapulae, torticollis, neck asymmetry, facial dysmorphism, dispersed café-au-lait spots, limited mobility of upper limbs and shoulder joints, and intellectual disability. Sequencing revealed that he has harbored a de novo heterozygous c.405dupT (p.Ile136Tyrfs*4) variant of the PUF60 gene. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), this variant was classified as pathogenic (PVS1+PS2_moderate+PM2_supporting). Combined his clinical features and result of genetic testing, the child was diagnosed with VRJS due to variant of the PUF60 gene.
CONCLUSION:The clinical manifestations of VRJS include facial dysmorphism, intellectual disability, elevated scapulae, vertebral fusion, other skeletal malformations, without significant abnormalities of the heart, kidney, and eyes, which need to be distinguished from Klippel-Feil syndrome. Above finding has expended the mutation spectrum of the PUF60 gene and provided a reference for delineation of the genotype-phenotype correlation of the VRJS.
